Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA5 0 genome.wustl.edu 37 17 67250503 67250503 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 67250503 67250503 T C SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known silent c.4200 p.G1400 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 33 0 0.00 35 4 10.26 ACTL9 0 genome.wustl.edu 37 19 8807881 8807881 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 8807881 8807881 G A SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.1171 p.R391C 0.994 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 tier1 - - 50 0 0.00 34 23 40.35 ADAM18 0 genome.wustl.edu 37 8 39466580 39466580 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 39466580 39466580 T G SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.208 p.F70V 0.021 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 55 0 0.00 27 9 25.00 ADAM21 0 genome.wustl.edu 37 14 70925692 70925692 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 70925692 70925692 C T SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known silent c.1476 p.D492 0.997 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 101 0 0.00 62 5 7.46 ADAMTS17 0 genome.wustl.edu 37 15 100516343 100516343 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 100516343 100516343 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.3034 p.P1012S 0.986 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 tier1 - - 59 0 0.00 50 6 10.71 ADAMTS20 0 genome.wustl.edu 37 12 43771277 43771277 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 43771277 43771277 A C SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4886 p.L1629R 0.960 superfamily_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 74 0 0.00 39 8 17.02 ADAMTS20 0 genome.wustl.edu 37 12 43846085 43846085 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 43846085 43846085 G T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2071 p.Q691K 0.981 prints_Peptidase_M12B_ADAM-TS pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 65 0 0.00 36 10 21.74 ADAMTS7 0 genome.wustl.edu 37 15 79058876 79058876 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 79058876 79058876 C A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.3377 p.G1126V 0.005 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 70 0 0.00 44 7 13.73 ADGB 0 genome.wustl.edu 37 6 147109545 147109545 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 147109545 147109545 G A SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.4336 p.V1446I 0.000 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 32 0 0.00 24 4 14.29 ADRM1 0 genome.wustl.edu 37 20 60882434 60882434 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 60882434 60882434 G A SNP ADRM1 ENST00000253003 human ensembl 74_37 +1 known silent c.549 p.L183 0.997 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 tier1 - - 76 0 0.00 52 19 26.76 AGBL1 0 genome.wustl.edu 37 15 86697696 86697696 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 86697696 86697696 G A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.160 p.A54T 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 51 0 0.00 70 12 14.63 AKAP13 0 genome.wustl.edu 37 15 86207955 86207955 + Missense_Mutation SNP A A T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 86207955 86207955 A T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.4973 p.D1658V 0.068 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 30 0 0.00 37 5 11.90 ANKRD35 0 genome.wustl.edu 37 1 145562600 145562600 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 145562600 145562600 C T SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.2288 p.P763L 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 tier1 - - 37 0 0.00 45 6 11.76 ANKRD36 0 genome.wustl.edu 37 2 97853088 97853088 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 97853088 97853088 C G SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.2093 p.S698C 0.024 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 207 0 0.00 217 46 17.42 ANKRD7 0 genome.wustl.edu 37 7 117864981 117864981 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 117864981 117864981 G C SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known missense c.97 p.A33P 0.992 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 tier1 - - 26 0 0.00 35 7 16.67 APEX1 0 genome.wustl.edu 37 14 20925203 20925203 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 20925203 20925203 T G SNP APEX1 ENST00000216714 human ensembl 74_37 +1 known missense c.493 p.F165V 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX1 HGNC ENSG00000100823 tier1 - - 27 0 0.00 7 5 41.67 ASTE1 0 genome.wustl.edu 37 3 130733046 130733047 + Frame_Shift_Ins INS - - T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 130733046 130733047 - T INS ASTE1 ENST00000264992 human ensembl 74_37 -1 known frame_shift_ins c.1895_1894 p.R632fs 0.003:0.014 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 18 0 0.00 18 4 18.18 ATM 0 genome.wustl.edu 37 11 108164101 108164101 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 108164101 108164101 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4673 p.T1558M 0.996 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 66 0 0.00 37 11 22.92 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99032748 99032748 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 99032748 99032748 G A SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.265 p.R89W 0.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 tier1 - - 45 0 0.00 27 38 58.46 BAI3 0 genome.wustl.edu 37 6 69772889 69772889 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 69772889 69772889 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.2397 p.T799 0.010 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 69 0 0.00 44 7 13.73 BARHL1 0 genome.wustl.edu 37 9 135462883 135462883 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 135462883 135462883 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.634 p.A212T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 tier1 - - 52 0 0.00 30 4 11.76 BARHL2 0 genome.wustl.edu 37 1 91180220 91180221 + Frame_Shift_Ins INS - - A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 91180220 91180221 - A INS BARHL2 ENST00000370445 human ensembl 74_37 -1 known frame_shift_ins c.719_718 p.S240fs 0.998:1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 tier1 50 0 0.00 35 8 18.60 BCAN 0 genome.wustl.edu 37 1 156617318 156617318 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 156617318 156617318 G A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.485 p.R162Q 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 tier1 - - 52 0 0.00 28 5 15.15 BCL9 0 genome.wustl.edu 37 1 147091476 147091476 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 147091476 147091476 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.1515 p.H505 0.054 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 28 0 0.00 22 4 15.38 BTK 0 genome.wustl.edu 37 X 100614296 100614296 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 X 100614296 100614296 T C SNP BTK ENST00000308731 human ensembl 74_37 -1 known silent c.879 p.Q293 0.997 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 tier1 - - 30 0 0.00 16 4 20.00 BVES 0 genome.wustl.edu 37 6 105573312 105573312 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 105573312 105573312 C T SNP BVES ENST00000314641 human ensembl 74_37 -1 known missense c.493 p.D165N 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC ENSG00000112276 tier1 - - 67 0 0.00 49 4 7.55 C19orf54 0 genome.wustl.edu 37 19 41255428 41255428 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 41255428 41255428 C T SNP C19orf54 ENST00000378313 human ensembl 74_37 -1 known missense c.281 p.G94D 0.348 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 tier1 - - 87 0 0.00 66 4 5.71 C1orf27 0 genome.wustl.edu 37 1 186368089 186368089 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 186368089 186368089 G A SNP C1orf27 ENST00000287859 human ensembl 74_37 +1 known missense c.913 p.V305I 0.497 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 tier1 - - 72 0 0.00 76 6 7.32 C20orf166-AS1 0 genome.wustl.edu 37 20 61143764 61143764 + RNA SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 61143764 61143764 G C SNP C20orf166-AS1 ENST00000412495 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 tier1 - - 106 0 0.00 114 8 6.50 C2orf15 0 genome.wustl.edu 37 2 99802708 99802708 + Silent SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 99802708 99802708 C A SNP C2orf15 ENST00000424491 human ensembl 74_37 +1 known silent c.132 p.G44 0.000 NULL pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like - no_errors C2orf15 HGNC ENSG00000241962 tier1 - - 63 0 0.00 63 15 19.23 C4orf22 0 genome.wustl.edu 37 4 81504394 81504395 + RNA INS - - A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 81504394 81504395 - A INS C4orf22 ENST00000503883 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors C4orf22 HGNC ENSG00000197826 tier1 20 0 0.00 16 3 15.79 C8orf34 0 genome.wustl.edu 37 8 69243487 69243487 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 69243487 69243487 G A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known silent c.240 p.S80 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 42 0 0.00 20 10 33.33 CACNA1S 0 genome.wustl.edu 37 1 201063084 201063084 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 201063084 201063084 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.324 p.Y108 0.984 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 rs200487405 - 34 0 0.00 33 5 13.16 CACNA2D1 0 genome.wustl.edu 37 7 81765972 81765972 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 81765972 81765972 G A SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.375 p.Y125 1.000 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 112 0 0.00 81 9 10.00 CALR3 0 genome.wustl.edu 37 19 16606868 16606868 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 16606868 16606868 C G SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known missense c.73 p.E25Q 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 tier1 - - 87 0 0.00 76 18 19.15 CAND1 0 genome.wustl.edu 37 12 67688905 67688905 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 67688905 67688905 G T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.460 p.A154S 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 70 0 0.00 59 4 6.35 CAPRIN1 0 genome.wustl.edu 37 11 34098007 34098007 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 34098007 34098007 G A SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known silent c.591 p.R197 0.946 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 tier1 - - 46 0 0.00 49 7 12.50 CASP7 0 genome.wustl.edu 37 10 115481450 115481450 + Silent SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 115481450 115481450 G T SNP CASP7 ENST00000369321 human ensembl 74_37 +1 known silent c.387 p.A129 0.828 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP7 HGNC ENSG00000165806 tier1 - - 77 0 0.00 59 4 6.35 CCL28 0 genome.wustl.edu 37 5 43381990 43381990 + Missense_Mutation SNP T T A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 43381990 43381990 T A SNP CCL28 ENST00000361115 human ensembl 74_37 -1 known missense c.356 p.E119V 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CCL28 HGNC ENSG00000151882 tier1 - - 161 0 0.00 188 10 5.05 CCNJ 0 genome.wustl.edu 37 10 97816949 97816949 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 97816949 97816949 C A SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known missense c.685 p.R229S 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 tier1 - - 143 0 0.00 100 10 9.09 CCR1 0 genome.wustl.edu 37 3 46245394 46245394 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 46245394 46245394 G A SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known silent c.411 p.H137 0.104 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 tier1 - - 40 0 0.00 25 8 24.24 CD244 0 genome.wustl.edu 37 1 160811182 160811182 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 160811182 160811182 C T SNP CD244 ENST00000368033 human ensembl 74_37 -1 known missense c.488 p.G163D 0.000 pfscan_Ig-like_dom pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 tier1 - - 74 0 0.00 58 14 19.44 CDH5 0 genome.wustl.edu 37 16 66420990 66420990 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 66420990 66420990 G A SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known silent c.489 p.S163 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 tier1 - - 51 0 0.00 48 7 12.73 CEACAM4 0 genome.wustl.edu 37 19 42126967 42126967 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 42126967 42126967 C T SNP CEACAM4 ENST00000221954 human ensembl 74_37 -1 known silent c.576 p.P192 0.000 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors CEACAM4 HGNC ENSG00000105352 tier1 - - 65 0 0.00 39 14 26.42 CELA3A 0 genome.wustl.edu 37 1 22333904 22333904 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 22333904 22333904 C G SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known missense c.538 p.L180V 0.625 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 tier1 - - 61 0 0.00 35 15 30.00 CENPF 0 genome.wustl.edu 37 1 214825215 214825215 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 214825215 214825215 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.8146 p.D2716N 0.004 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 55 0 0.00 44 4 8.33 CEP135 0 genome.wustl.edu 37 4 56831979 56831981 + In_Frame_Del DEL AAG AAG - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 56831979 56831981 AAG - DEL CEP135 ENST00000257287 human ensembl 74_37 +1 known in_frame_del c.998_1000 p.E335in_frame_del 1.000:1.000:1.000 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 tier1 29 0 0.00 14 4 22.22 CEP85L 0 genome.wustl.edu 37 6 118887415 118887415 + Silent SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 118887415 118887415 A C SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.306 p.T102 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 tier1 - - 46 0 0.00 34 5 12.82 CHIA 0 genome.wustl.edu 37 1 111862019 111862019 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 111862019 111862019 G A SNP CHIA ENST00000343320 human ensembl 74_37 +1 known missense c.1106 p.G369D 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 34 0 0.00 15 2 11.76 CHRNB1 0 genome.wustl.edu 37 17 7359954 7359954 + Nonsense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 7359954 7359954 G A SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known nonsense c.1418 p.W473* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 tier1 - - 100 0 0.00 49 6 10.91 CLDN8 0 genome.wustl.edu 37 21 31587909 31587909 + Missense_Mutation SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 21 31587909 31587909 T C SNP CLDN8 ENST00000286809 human ensembl 74_37 -1 known missense c.335 p.E112G 0.041 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 61 0 0.00 34 3 8.11 CLEC4D 0 genome.wustl.edu 37 12 8672900 8672900 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 8672900 8672900 C T SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known missense c.463 p.R155C 0.422 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 34 0 0.00 27 3 10.00 CLIP4 0 genome.wustl.edu 37 2 29366762 29366762 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 29366762 29366762 C T SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.836 p.T279M 0.009 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 tier1 - - 40 0 0.00 27 11 28.95 CNOT10 0 genome.wustl.edu 37 3 32737174 32737174 + Silent SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 32737174 32737174 C G SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known silent c.57 p.R19 0.004 NULL pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 tier1 - - 94 0 0.00 143 19 11.73 COL14A1 0 genome.wustl.edu 37 8 121302004 121302004 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 121302004 121302004 C T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.4235 p.P1412L 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 56 0 0.00 56 4 6.67 COL19A1 0 genome.wustl.edu 37 6 70669905 70669905 + Missense_Mutation SNP T T A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 70669905 70669905 T A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.954 p.H318Q 0.651 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 54 0 0.00 60 4 6.25 COL22A1 0 genome.wustl.edu 37 8 139601476 139601476 + RNA SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 139601476 139601476 T C SNP COL22A1 ENST00000341807 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 56 0 0.00 36 5 12.20 COL6A5 0 genome.wustl.edu 37 3 130098739 130098739 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 130098739 130098739 A C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.1146 p.E382D 0.987 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 32 0 0.00 33 8 19.51 CPEB4 0 genome.wustl.edu 37 5 173378899 173378899 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 173378899 173378899 A G SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.1738 p.K580E 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 125 0 0.00 122 8 6.15 CUL9 0 genome.wustl.edu 37 6 43189490 43189490 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 43189490 43189490 A G SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.6820 p.K2274E 1.000 smart_Znf_C6HC,pfscan_Znf_RING pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 35 0 0.00 37 4 9.76 CYP27C1 0 genome.wustl.edu 37 2 127950791 127950791 + Nonsense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 127950791 127950791 C T SNP CYP27C1 ENST00000335247 human ensembl 74_37 -1 known nonsense c.881 p.W294* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27C1 HGNC ENSG00000186684 tier1 - - 21 0 0.00 28 9 24.32 DAOA 0 genome.wustl.edu 37 13 106124928 106124928 + Nonsense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 13 106124928 106124928 G T SNP DAOA ENST00000375936 human ensembl 74_37 +1 known nonsense c.175 p.E59* 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 47 0 0.00 57 6 9.52 DCC 0 genome.wustl.edu 37 18 50976903 50976903 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 50976903 50976903 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3263 p.G1088D 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 83 0 0.00 56 6 9.52 DERL1 0 genome.wustl.edu 37 8 124054254 124054254 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 124054254 124054254 C T SNP DERL1 ENST00000259512 human ensembl 74_37 -1 known missense c.109 p.A37T 0.994 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC ENSG00000136986 75 0 0.00 71 4 5.33 DGUOK 0 genome.wustl.edu 37 2 74154136 74154136 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 74154136 74154136 C T SNP DGUOK ENST00000264093 human ensembl 74_37 +1 known silent c.99 p.H33 0.930 NULL pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DGUOK HGNC ENSG00000114956 tier1 - - 40 0 0.00 50 11 18.03 DHTKD1 0 genome.wustl.edu 37 10 12131151 12131151 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 12131151 12131151 C T SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.884 p.P295L 0.999 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 tier1 - - 39 0 0.00 19 5 20.83 DHX29 0 genome.wustl.edu 37 5 54567972 54567972 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 54567972 54567972 C T SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.2807 p.G936D 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 74 0 0.00 71 4 5.33 DIP2A 0 genome.wustl.edu 37 21 47987287 47987287 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 21 47987287 47987287 G A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.4471 p.V1491I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 37 0 0.00 21 2 8.70 DLAT 0 genome.wustl.edu 37 11 111897025 111897026 + Splice_Site INS - - A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 111897025 111897026 - A INS DLAT ENST00000280346 human ensembl 74_37 +1 known splice_site_ins c.381+2_381+1 e2+2 1.000:0.997 - - - no_errors DLAT HGNC ENSG00000150768 tier1 53 0 0.00 41 3 6.82 DMXL1 0 genome.wustl.edu 37 5 118454598 118454598 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 118454598 118454598 C T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.832 p.L278 0.239 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 78 0 0.00 75 4 5.06 DNAH1 0 genome.wustl.edu 37 3 52418830 52418830 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 52418830 52418830 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.8351 p.S2784L 0.972 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 35 0 0.00 29 6 17.14 DNAH14 0 genome.wustl.edu 37 1 225230538 225230538 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 225230538 225230538 T G SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.1490 p.I497S 0.442 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 75 0 0.00 54 23 29.87 DOCK2 0 genome.wustl.edu 37 5 169097551 169097551 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 169097551 169097551 T G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.174 p.I58M 0.998 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 60 0 0.00 51 5 8.93 DOCK4 0 genome.wustl.edu 37 7 111509629 111509629 + Splice_Site SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 111509629 111509629 C G SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known splice_site c.2109+1 e21+1 1.000 - - - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 35 0 0.00 46 5 9.80 DPP10 0 genome.wustl.edu 37 2 116572395 116572395 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 116572395 116572395 T G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1739 p.V580G 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 49 0 0.00 65 8 10.96 DPYD 0 genome.wustl.edu 37 1 98164964 98164964 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 98164964 98164964 C A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.623 p.R208L 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 26 0 0.00 26 4 13.33 DRD5 0 genome.wustl.edu 37 4 9784785 9784785 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 9784785 9784785 T G SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.1132 p.F378V 0.043 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 52 0 0.00 55 3 5.17 DSCAM 0 genome.wustl.edu 37 21 41446994 41446994 + Silent SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 21 41446994 41446994 G T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.4858 p.R1620 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 rs201077680 - 67 0 0.00 50 8 13.79 DUSP10 0 genome.wustl.edu 37 1 221875157 221875158 + RNA DEL AA AA - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 221875157 221875158 AA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 25 0 0.00 10 3 23.08 DYNC1LI2 0 genome.wustl.edu 37 16 66776398 66776398 + Nonsense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 66776398 66776398 C A SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known nonsense c.472 p.E158* 1.000 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 tier1 - - 65 0 0.00 36 18 33.33 EIF5B 0 genome.wustl.edu 37 2 100006829 100006829 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 100006829 100006829 G C SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.2551 p.A851P 1.000 superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 - - 57 0 0.00 39 9 18.75 ENSG00000203849 0 genome.wustl.edu 37 1 142713591 142713591 + RNA SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 142713591 142713591 T G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.081 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 147 0 0.00 116 19 14.07 ENSG00000206567 0 genome.wustl.edu 37 3 10048911 10048911 + RNA SNP T T A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 10048911 10048911 T A SNP ENSG00000206567 ENST00000383808 human ensembl 74_37 -1 known rna NULL NULL 0.075 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 24 0 0.00 40 3 6.98 ENSG00000214581 0 genome.wustl.edu 37 16 34681585 34681585 + RNA SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 34681585 34681585 T G SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 54 0 0.00 46 16 25.81 ENSG00000221741 0 genome.wustl.edu 37 5 167297560 167297561 + RNA DEL AT AT - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 167297560 167297561 AT - DEL ENSG00000221741 ENST00000408814 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.001 - - - no_errors AC093304.1 Clone_based_ensembl_gene ENSG00000221741 tier1 28 0 0.00 30 8 21.05 ENSG00000226668 0 genome.wustl.edu 37 9 95648272 95648272 + RNA SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 95648272 95648272 C A SNP ENSG00000226668 ENST00000446878 human ensembl 74_37 +1 putative rna NULL NULL 0.587 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 tier1 - - 205 0 0.00 154 27 14.84 ENSG00000258882 0 genome.wustl.edu 37 14 62331619 62331619 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 62331619 62331619 C T SNP ENSG00000258882 ENST00000554436 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors CTD-2277K2.1 Clone_based_vega_gene ENSG00000258882 tier1 - - 46 0 0.00 20 8 28.57 ENSG00000259480 0 genome.wustl.edu 37 15 23128461 23128461 + RNA SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 23128461 23128461 G A SNP ENSG00000259480 ENST00000560053 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-26F2.1 Clone_based_vega_gene ENSG00000259480 tier1 - - 85 0 0.00 52 16 23.53 ENSG00000260091 0 genome.wustl.edu 37 4 120330507 120330507 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 120330507 120330507 C T SNP ENSG00000260091 ENST00000567343 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors RP11-33B1.4 Clone_based_vega_gene ENSG00000260091 tier1 - - 30 0 0.00 23 5 17.86 ENSG00000272268 0 genome.wustl.edu 37 2 6112468 6112468 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 6112468 6112468 A G SNP ENSG00000272268 ENST00000391666 human ensembl 74_37 +1 known missense c.412 p.I138V 0.000 NULL NULL - no_errors FLJ30594 Uniprot_gn ENSG00000272268 tier1 - - 30 0 0.00 13 10 43.48 ENTHD1 0 genome.wustl.edu 37 22 40139790 40139790 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 40139790 40139790 A C SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1718 p.L573R 0.502 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 55 0 0.00 44 8 15.38 EPB41L1 0 genome.wustl.edu 37 20 34776395 34776395 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 34776395 34776395 T G SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1000 p.F334V 1.000 pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 36 0 0.00 28 7 20.00 EPB41L3 0 genome.wustl.edu 37 18 5406797 5406797 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 5406797 5406797 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2328 p.I776 0.615 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 77 0 0.00 71 6 7.69 EPPK1 0 genome.wustl.edu 37 8 144941802 144941802 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 144941802 144941802 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.5620 p.R1874C 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 50 0 0.00 27 10 27.03 EQTN 0 genome.wustl.edu 37 9 27284831 27284831 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 27284831 27284831 C G SNP EQTN ENST00000380032 human ensembl 74_37 -1 known missense c.775 p.D259H 0.736 NULL NULL - no_errors EQTN HGNC ENSG00000120160 tier1 - - 95 0 0.00 55 40 42.11 ETV3L 0 genome.wustl.edu 37 1 157067666 157067666 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 157067666 157067666 C T SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known missense c.601 p.V201I 0.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 24 0 0.00 21 6 22.22 EYS 0 genome.wustl.edu 37 6 65622444 65622444 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 65622444 65622444 G T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.2574 p.N858K 0.527 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 75 0 0.00 49 8 14.04 F11 0 genome.wustl.edu 37 4 187197501 187197501 + Missense_Mutation SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 187197501 187197501 T C SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.712 p.F238L 0.998 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 tier1 - - 90 0 0.00 51 9 15.00 FAM154B 0 genome.wustl.edu 37 15 82575073 82575073 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 82575073 82575073 T G SNP FAM154B ENST00000339465 human ensembl 74_37 +1 known missense c.867 p.F289L 0.913 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 tier1 - - 33 0 0.00 36 7 16.28 FAM160A2 0 genome.wustl.edu 37 11 6239171 6239171 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 6239171 6239171 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1687 p.D563N 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 78 0 0.00 77 14 15.38 FAM171B 0 genome.wustl.edu 37 2 187627401 187627401 + Nonsense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 187627401 187627401 G T SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known nonsense c.2332 p.E778* 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 34 0 0.00 35 2 5.41 FAM182A 0 genome.wustl.edu 37 20 26061957 26061957 + RNA SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 26061957 26061957 G A SNP FAM182A ENST00000376398 human ensembl 74_37 +1 known rna NULL NULL 0.104 - - - no_errors FAM182A HGNC ENSG00000125804 tier1 - - 60 0 0.00 44 10 18.52 FANCD2 0 genome.wustl.edu 37 3 10107133 10107133 + Nonsense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 10107133 10107133 G T SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known nonsense c.2224 p.E742* 0.996 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 - - 66 0 0.00 119 10 7.75 FAR2 0 genome.wustl.edu 37 12 29474775 29474775 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 29474775 29474775 A G SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.1175 p.E392G 1.000 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 tier1 - - 63 0 0.00 49 4 7.55 FAT3 0 genome.wustl.edu 37 11 92532369 92532369 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 92532369 92532369 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6190 p.R2064C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 45 0 0.00 33 6 15.38 FBN1 0 genome.wustl.edu 37 15 48707779 48707779 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 48707779 48707779 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.8005 p.G2669S 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 41 0 0.00 43 6 12.24 FGGY 0 genome.wustl.edu 37 1 60139734 60139734 + Nonsense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 60139734 60139734 G T SNP FGGY ENST00000303721 human ensembl 74_37 +1 known nonsense c.1441 p.E481* 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 tier1 - - 98 0 0.00 87 18 17.14 FICD 0 genome.wustl.edu 37 12 108912645 108912645 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 108912645 108912645 G C SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.770 p.S257T 1.000 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 16 0 0.00 12 4 25.00 FLNA 0 genome.wustl.edu 37 X 153588526 153588526 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 X 153588526 153588526 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.3637 p.G1213S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 tier1 - - 33 0 0.00 19 10 34.48 FOXI2 0 genome.wustl.edu 37 10 129535908 129535908 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 129535908 129535908 C T SNP FOXI2 ENST00000388920 human ensembl 74_37 +1 known missense c.371 p.T124M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI2 HGNC ENSG00000186766 tier1 - - 40 0 0.00 26 4 13.33 FRMD4A 0 genome.wustl.edu 37 10 13699153 13699153 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 13699153 13699153 G A SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known silent c.2436 p.G812 0.078 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 24 0 0.00 12 4 23.53 FSTL5 0 genome.wustl.edu 37 4 162402181 162402181 + Missense_Mutation SNP T T A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 162402181 162402181 T A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1599 p.K533N 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 36 0 0.00 49 5 9.26 GABRB1 0 genome.wustl.edu 37 4 47163405 47163405 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 47163405 47163405 A C SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.380 p.K127T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 64 0 0.00 67 17 20.24 GALNT13 0 genome.wustl.edu 37 2 155295209 155295209 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 155295209 155295209 G A SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.1501 p.G501R 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 tier1 - - 119 0 0.00 123 16 11.51 GINM1 0 genome.wustl.edu 37 6 149899972 149899972 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 149899972 149899972 C A SNP GINM1 ENST00000367419 human ensembl 74_37 +1 known missense c.292 p.L98I 0.993 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 34 0 0.00 34 2 5.56 GNAS 0 genome.wustl.edu 37 20 57415196 57415196 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 57415196 57415196 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.35 p.R12Q 1.000 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 96 0 0.00 53 3 5.36 GP2 0 genome.wustl.edu 37 16 20327345 20327345 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 20327345 20327345 T C SNP GP2 ENST00000381362 human ensembl 74_37 -1 known silent c.1443 p.Q481 0.000 pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 tier1 - - 55 0 0.00 32 21 39.62 GPM6A 0 genome.wustl.edu 37 4 176594834 176594834 + Silent SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 176594834 176594834 A G SNP GPM6A ENST00000280187 human ensembl 74_37 -1 known silent c.384 p.A128 0.998 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 tier1 - - 21 0 0.00 15 4 21.05 GPR124 0 genome.wustl.edu 37 8 37687410 37687410 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 37687410 37687410 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.596 p.R199H 1.000 smart_Cys-rich_flank_reg_C pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 - - 30 0 0.00 13 4 23.53 GPR161 0 genome.wustl.edu 37 1 168066003 168066003 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 168066003 168066003 A G SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.902 p.V301A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 - - 42 0 0.00 47 5 9.62 GPR19 0 genome.wustl.edu 37 12 12814845 12814845 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 12814845 12814845 C A SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known missense c.538 p.A180S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 tier1 - - 46 0 0.00 45 4 8.16 GPX5 0 genome.wustl.edu 37 6 28501887 28501887 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 28501887 28501887 G A SNP GPX5 ENST00000412168 human ensembl 74_37 +1 known silent c.609 p.T203 0.000 superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 tier1 - - 49 0 0.00 45 9 16.67 GRIK3 0 genome.wustl.edu 37 1 37271877 37271877 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 37271877 37271877 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.2142 p.K714 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 73 0 0.00 45 15 25.00 GRIN2C 0 genome.wustl.edu 37 17 72846347 72846347 + Nonsense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 72846347 72846347 C A SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known nonsense c.1489 p.E497* 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 tier1 - - 72 0 0.00 41 4 8.89 GTF2I 0 genome.wustl.edu 37 7 74133241 74133241 + Silent SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 74133241 74133241 A G SNP GTF2I ENST00000324896 human ensembl 74_37 +1 known silent c.924 p.E308 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 tier1 - - 55 0 0.00 37 10 21.28 GUCY1A3 0 genome.wustl.edu 37 4 156638421 156638421 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 156638421 156638421 T C SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known silent c.1683 p.D561 0.993 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 56 0 0.00 38 10 20.83 HADHA 0 genome.wustl.edu 37 2 26416532 26416532 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 26416532 26416532 G A SNP HADHA ENST00000380649 human ensembl 74_37 -1 known missense c.1799 p.A600V 0.960 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 40 0 0.00 36 2 5.26 HDAC3 0 genome.wustl.edu 37 5 141016116 141016118 + In_Frame_Del DEL ATC ATC - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 141016116 141016118 ATC - DEL HDAC3 ENST00000305264 human ensembl 74_37 -1 known in_frame_del c.137_135 p.M45in_frame_del 1.000:1.000:1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 tier1 168 0 0.00 143 22 13.33 HERC2 0 genome.wustl.edu 37 15 28389296 28389296 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 28389296 28389296 G T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.11226 p.N3742K 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 21 0 0.00 15 4 21.05 HIPK1 0 genome.wustl.edu 37 1 114516033 114516034 + Frame_Shift_Del DEL CA CA - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 114516033 114516034 CA - DEL HIPK1 ENST00000369558 human ensembl 74_37 +1 known frame_shift_del c.3532_3533 p.Q1178fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK1 HGNC ENSG00000163349 tier1 27 0 0.00 14 6 30.00 HIST1H1B 0 genome.wustl.edu 37 6 27835214 27835214 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 27835214 27835214 C T SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.94 p.G32S 0.865 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 - - 48 0 0.00 41 7 14.58 HIST1H3D 0 genome.wustl.edu 37 6 26197097 26197097 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 26197097 26197097 C A SNP HIST1H3D ENST00000356476 human ensembl 74_37 -1 known missense c.382 p.A128S 0.998 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3D HGNC ENSG00000197409 tier1 - - 90 0 0.00 42 20 32.26 HLA-DQB2 0 genome.wustl.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 32725559 32725559 C T SNP HLA-DQB2 ENST00000435145 human ensembl 74_37 -1 known missense c.748 p.G250S 0.392 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB2 HGNC ENSG00000232629 tier1 rs113761247 - 48 0 0.00 71 8 10.13 HMCN2 0 genome.wustl.edu 37 9 133305924 133305924 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 133305924 133305924 G T SNP HMCN2 ENST00000302481 human ensembl 74_37 +1 known missense c.3 p.M1I 0.000 NULL pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HMCN2 HGNC ENSG00000148357 tier1 - - 64 0 0.00 40 21 34.43 HSF4 0 genome.wustl.edu 37 16 67199459 67199459 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 67199459 67199459 G A SNP HSF4 ENST00000264009 human ensembl 74_37 +1 known missense c.158 p.R53H 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 tier1 - - 26 0 0.00 26 7 21.21 ICAM3 0 genome.wustl.edu 37 19 10446014 10446014 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 10446014 10446014 G A SNP ICAM3 ENST00000160262 human ensembl 74_37 -1 known missense c.665 p.P222L 0.000 NULL pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 tier1 - - 80 0 0.00 57 6 9.52 IGDCC3 0 genome.wustl.edu 37 15 65621744 65621744 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 65621744 65621744 G A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.2189 p.P730L 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 99 0 0.00 82 6 6.82 IGSF11 0 genome.wustl.edu 37 3 118824023 118824023 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 118824023 118824023 A C SNP IGSF11 ENST00000354673 human ensembl 74_37 -1 known missense c.17 p.L6R 0.023 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 tier1 - - 49 0 0.00 28 13 31.71 IL17RC 0 genome.wustl.edu 37 3 9970020 9970020 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 9970020 9970020 C T SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known silent c.1122 p.A374 0.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 tier1 - - 88 0 0.00 154 10 6.10 ITPR1 0 genome.wustl.edu 37 3 4693856 4693856 + Frame_Shift_Del DEL T T - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 4693856 4693856 T - DEL ITPR1 ENST00000302640 human ensembl 74_37 +1 known frame_shift_del c.905 p.F303fs 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 57 0 0.00 42 3 6.67 KAZN 0 genome.wustl.edu 37 1 15441059 15441059 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 15441059 15441059 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known silent c.2256 p.D752 0.005 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 53 0 0.00 43 3 6.52 KCND3 0 genome.wustl.edu 37 1 112525097 112525097 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 112525097 112525097 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known silent c.252 p.F84 0.747 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 32 0 0.00 25 4 13.79 KCNH5 0 genome.wustl.edu 37 14 63447960 63447960 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 63447960 63447960 A C SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.572 p.I191S 1.000 prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 15 0 0.00 11 3 21.43 KCTD19 0 genome.wustl.edu 37 16 67333573 67333573 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 67333573 67333573 C T SNP KCTD19 ENST00000562860 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCTD19 HGNC ENSG00000168676 tier1 - - 31 0 0.00 27 8 22.86 KIAA1210 0 genome.wustl.edu 37 X 118223626 118223626 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 X 118223626 118223626 G A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.1567 p.R523W 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 rs201877365 - 70 0 0.00 54 4 6.90 KIAA1217 0 genome.wustl.edu 37 10 24784014 24784015 + RNA INS - - A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 24784014 24784015 - A INS KIAA1217 ENST00000460373 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors KIAA1217 HGNC ENSG00000120549 tier1 23 0 0.00 22 4 15.38 KIF1A 0 genome.wustl.edu 37 2 241737163 241737163 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 241737163 241737163 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.7 p.G3R 1.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 47 0 0.00 41 10 19.61 KIR3DL1 0 genome.wustl.edu 37 19 55333153 55333153 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 55333153 55333153 A C SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.789 p.E263D 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 58 0 0.00 32 6 15.79 KLHDC3 0 genome.wustl.edu 37 6 42986642 42986642 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 42986642 42986642 C T SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known missense c.862 p.P288S 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 54 0 0.00 44 4 8.33 KLHL6 0 genome.wustl.edu 37 3 183273292 183273292 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 183273292 183273292 G A SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known silent c.150 p.D50 0.976 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 tier1 rs201171041 - 42 0 0.00 31 6 16.22 LAMA1 0 genome.wustl.edu 37 18 6986337 6986337 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 6986337 6986337 T G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.5178 p.E1726D 0.368 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 88 0 0.00 27 23 46.00 LAT2 0 genome.wustl.edu 37 7 73631157 73631157 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 73631157 73631157 G A SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known missense c.97 p.A33T 0.007 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 61 0 0.00 60 5 7.69 LCE3A 0 genome.wustl.edu 37 1 152595447 152595447 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 152595447 152595447 G A SNP LCE3A ENST00000335674 human ensembl 74_37 -1 known missense c.133 p.R45C 0.000 NULL NULL - no_errors LCE3A HGNC ENSG00000185962 tier1 - - 71 0 0.00 42 15 26.32 LMF1 0 genome.wustl.edu 37 16 920018 920018 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 920018 920018 G A SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known silent c.1281 p.S427 0.907 pfam_LMF pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 tier1 - - 113 0 0.00 53 28 34.57 LMNB2 0 genome.wustl.edu 37 19 2431820 2431820 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 2431820 2431820 G A SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known silent c.1671 p.G557 0.035 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 tier1 - - 54 0 0.00 41 8 16.33 LMTK3 0 genome.wustl.edu 37 19 49004773 49004773 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 49004773 49004773 G A SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known missense c.928 p.R310C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 tier1 - - 65 0 0.00 50 4 7.41 LOC101927588 0 genome.wustl.edu 37 8 125220497 125220497 + RNA SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 125220497 125220497 C A SNP LOC101927588 ENST00000523703 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-37N22.1 Clone_based_vega_gene ENSG00000214803 tier1 - - 37 0 0.00 31 6 16.22 LOC101928524 0 genome.wustl.edu 37 10 13686069 13686069 + RNA SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 13686069 13686069 T C SNP LOC101928524 ENST00000610032 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-295P9.3 Clone_based_vega_gene ENSG00000239665 tier1 - - 37 0 0.00 22 4 15.38 LOC101930187 0 genome.wustl.edu 37 7 153756397 153756397 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 153756397 153756397 C T SNP LOC101930187 ENST00000425591 human ensembl 74_37 -1 known rna NULL NULL 0.075 - - - no_errors AC006019.3 Clone_based_vega_gene ENSG00000203335 tier1 - - 12 0 0.00 2 5 71.43 LPA 0 genome.wustl.edu 37 6 160999713 160999713 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 160999713 160999713 C A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4313 p.R1438M 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 81 0 0.00 73 7 8.75 LPHN2 0 genome.wustl.edu 37 1 82457881 82457881 + RNA SNP A A T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 82457881 82457881 A T SNP LPHN2 ENST00000469377 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 29 0 0.00 22 7 24.14 LRCOL1 0 genome.wustl.edu 37 12 133179888 133179888 + RNA SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 133179888 133179888 G A SNP LRCOL1 ENST00000376608 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRCOL1 HGNC ENSG00000204583 tier1 - - 92 0 0.00 44 18 29.03 LRRC9 0 genome.wustl.edu 37 14 60451884 60451884 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 60451884 60451884 T G SNP LRRC9 ENST00000254271 human ensembl 74_37 +1 known missense c.2153 p.L718R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 tier1 - - 53 0 0.00 33 11 25.00 MACF1 0 genome.wustl.edu 37 1 39784168 39784168 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 39784168 39784168 C G SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.3841 p.R1281G 0.999 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 61 0 0.00 38 5 11.36 MAGEC3 0 genome.wustl.edu 37 X 140984912 140984912 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 X 140984912 140984912 G A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known silent c.1368 p.L456 0.001 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 40 0 0.00 36 4 10.00 MAMDC2 0 genome.wustl.edu 37 9 72840670 72840672 + In_Frame_Del DEL TTT TTT - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 72840670 72840672 TTT - DEL MAMDC2 ENST00000377182 human ensembl 74_37 +1 known in_frame_del c.1916_1918 p.F640in_frame_del 1.000:0.997:1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 tier1 56 0 0.00 57 11 16.18 MAP2 0 genome.wustl.edu 37 2 210559608 210559608 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 210559608 210559608 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2714 p.R905Q 0.968 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 38 0 0.00 37 3 7.50 MBL1P 0 genome.wustl.edu 37 10 81666445 81666445 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 81666445 81666445 C T SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 0.544 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 431 0 0.00 367 109 22.85 MICALCL 0 genome.wustl.edu 37 11 12376403 12376403 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 12376403 12376403 G T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.1902 p.E634D 0.789 pfam_DUF3585 pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 tier1 - - 69 0 0.00 74 19 20.43 MME 0 genome.wustl.edu 37 3 154898237 154898237 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 154898237 154898237 C T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.2242 p.R748W 0.998 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 tier1 rs141665432 - 28 0 0.00 28 5 15.15 MROH7-TTC4 0 genome.wustl.edu 37 1 55145583 55145583 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 55145583 55145583 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.2246 p.G749D 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 27 0 0.00 34 6 15.00 MT-RNR2 0 genome.wustl.edu 37 MT 2292 2292 + RNA SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 MT 2292 2292 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 94 0 0.00 123 29 18.95 MTND1P15 0 genome.wustl.edu 37 17 22024731 22024731 + RNA SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 22024731 22024731 T C SNP MTND1P15 ENST00000579693 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors MTND1P15 HGNC ENSG00000264168 tier1 - - 25 0 0.00 12 4 25.00 MTO1 0 genome.wustl.edu 37 6 74190469 74190469 + Nonsense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 74190469 74190469 C T SNP MTO1 ENST00000415954 human ensembl 74_37 +1 known nonsense c.1201 p.R401* 1.000 pfam_GIDA-rel,tigrfam_GidA pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 tier1 - - 77 0 0.00 84 6 6.59 MTTP 0 genome.wustl.edu 37 4 100540256 100540259 + Splice_Site DEL GTAA GTAA - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 100540256 100540259 GTAA - DEL MTTP ENST00000265517 human ensembl 74_37 +1 known splice_site_del c.2342+1_2342+1 e16+1 1.000:1.000:1.000:1.000 - - - no_errors MTTP HGNC ENSG00000138823 tier1 64 0 0.00 58 6 9.38 MUC17 0 genome.wustl.edu 37 7 100685048 100685048 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 100685048 100685048 T G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10351 p.S3451A 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 103 0 0.00 92 19 17.12 MUC19 0 genome.wustl.edu 37 12 40854119 40854119 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 40854119 40854119 T C SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel silent c.3429 p.G1143 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 15 0 0.00 10 6 37.50 MUC4 0 genome.wustl.edu 37 3 195515498 195515498 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 195515498 195515498 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.2953 p.A985T 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 232 0 0.00 191 17 8.13 MYLK2 0 genome.wustl.edu 37 20 30414509 30414509 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 30414509 30414509 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known silent c.1074 p.F358 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 tier1 - - 40 0 0.00 29 6 17.14 NAA16 0 genome.wustl.edu 37 13 41894959 41894959 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 13 41894959 41894959 G A SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.401 p.R134Q 1.000 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 tier1 - - 56 0 0.00 44 7 13.73 NAGLU 0 genome.wustl.edu 37 17 40693105 40693105 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 40693105 40693105 A G SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known missense c.902 p.K301R 0.919 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 tier1 - - 45 0 0.00 34 4 10.53 NEK4 0 genome.wustl.edu 37 3 52786006 52786006 + Frame_Shift_Del DEL T T - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 52786006 52786006 T - DEL NEK4 ENST00000233027 human ensembl 74_37 -1 known frame_shift_del c.1310 p.K437fs 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 tier1 39 0 0.00 20 2 9.09 NIN 0 genome.wustl.edu 37 14 51223369 51223369 + Missense_Mutation SNP T T A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 51223369 51223369 T A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.4379 p.K1460M 0.992 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 65 0 0.00 51 10 16.39 NKX2-6 0 genome.wustl.edu 37 8 23560506 23560506 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 23560506 23560506 C T SNP NKX2-6 ENST00000325017 human ensembl 74_37 -1 known missense c.364 p.G122S 0.013 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-6 HGNC ENSG00000180053 tier1 - - 17 0 0.00 12 5 29.41 NLK 0 genome.wustl.edu 37 17 26370318 26370318 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 26370318 26370318 C T SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.419 p.P140L 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 tier1 - - 309 0 0.00 316 25 7.33 NME9 0 genome.wustl.edu 37 3 138038346 138038346 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 138038346 138038346 C T SNP NME9 ENST00000333911 human ensembl 74_37 -1 known missense c.169 p.G57S 0.960 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME9 HGNC ENSG00000181322 tier1 - - 39 0 0.00 29 7 19.44 NPIPB5 0 genome.wustl.edu 37 16 22503114 22503114 + RNA SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 22503114 22503114 T C SNP NPIPB5 ENST00000415654 human ensembl 74_37 +1 known rna NULL NULL 0.942 - - - no_errors NPIPB5 HGNC ENSG00000243716 tier1 - - 83 0 0.00 44 7 13.73 NRF1 0 genome.wustl.edu 37 7 129350386 129350386 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 129350386 129350386 C G SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.938 p.P313R 1.000 NULL pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 39 0 0.00 37 4 9.52 NRIP1 0 genome.wustl.edu 37 21 16338329 16338330 + Frame_Shift_Ins INS - - T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 21 16338329 16338330 - T INS NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_ins c.2185_2184 p.E728fs 0.999:0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 tier1 33 0 0.00 24 3 11.11 NUCB1 0 genome.wustl.edu 37 19 49414486 49414486 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 49414486 49414486 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.457 p.D153N 1.000 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 tier1 - - 41 0 0.00 33 5 13.16 NXF2B 0 genome.wustl.edu 37 X 101615753 101615753 + Nonsense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 X 101615753 101615753 C T SNP NXF2B ENST00000372749 human ensembl 74_37 -1 known nonsense c.1796 p.W599* 1.000 pfam_TAP_C_dom,superfamily_UBA-like,smart_TAP_C_dom pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 tier1 - - 28 0 0.00 17 3 15.00 NXPE1 0 genome.wustl.edu 37 11 114401612 114401612 + Silent SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 114401612 114401612 A G SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known silent c.118 p.L40 0.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 62 0 0.00 62 5 7.46 OAS3 0 genome.wustl.edu 37 12 113376342 113376342 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 113376342 113376342 T G SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.7 p.L3V 0.982 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 9 0 0.00 24 4 14.29 OLIG3 0 genome.wustl.edu 37 6 137815154 137815154 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 137815154 137815154 G A SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.154 p.P52S 0.961 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 31 0 0.00 25 2 7.41 OR1A1 0 genome.wustl.edu 37 17 3119721 3119721 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 3119721 3119721 C T SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known silent c.807 p.D269 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 tier1 - - 40 0 0.00 42 8 16.00 OR1J4 0 genome.wustl.edu 37 9 125282234 125282234 + Missense_Mutation SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 125282234 125282234 T C SNP OR1J4 ENST00000340750 human ensembl 74_37 +1 known missense c.815 p.V272A 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J4 HGNC ENSG00000239590 tier1 - - 72 0 0.00 49 30 37.97 OR2G2 0 genome.wustl.edu 37 1 247752514 247752514 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 247752514 247752514 A C SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.853 p.T285P 0.040 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 tier1 - - 104 0 0.00 75 19 20.21 OR4A5 0 genome.wustl.edu 37 11 51411866 51411866 + Missense_Mutation SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 51411866 51411866 T C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.530 p.D177G 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 tier1 - - 106 0 0.00 126 9 6.67 OR4A5 0 genome.wustl.edu 37 11 51411456 51411456 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 51411456 51411456 G C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.940 p.L314V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 68 0 0.00 58 4 6.45 OR5I1 0 genome.wustl.edu 37 11 55703182 55703182 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 55703182 55703182 G A SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.695 p.S232F 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 tier1 - - 34 0 0.00 32 6 15.79 OR5M1 0 genome.wustl.edu 37 11 56380545 56380545 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 56380545 56380545 A G SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.434 p.V145A 0.098 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 tier1 - - 18 0 0.00 28 10 26.32 OR5M10 0 genome.wustl.edu 37 11 56345015 56345015 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 56345015 56345015 G T SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.183 p.F61L 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 tier1 - - 63 0 0.00 67 8 10.67 PATZ1 0 genome.wustl.edu 37 22 31741150 31741150 + Missense_Mutation SNP A A T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 31741150 31741150 A T SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.439 p.S147T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 tier1 - - 23 0 0.00 25 7 21.88 PCDH15 0 genome.wustl.edu 37 10 55943308 55943308 + Missense_Mutation SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 55943308 55943308 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1486 p.N496D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 83 0 0.00 112 8 6.67 PCNXL3 0 genome.wustl.edu 37 11 65385641 65385641 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 65385641 65385641 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.808 p.R270W 0.993 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 34 0 0.00 13 10 43.48 PDE11A 0 genome.wustl.edu 37 2 178769881 178769881 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 178769881 178769881 C T SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.1105 p.A369T 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 tier1 - - 54 0 0.00 62 9 12.68 PDE1C 0 genome.wustl.edu 37 7 31917639 31917639 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 31917639 31917639 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.436 p.R146W 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 32 0 0.00 33 25 43.10 PDE7B 0 genome.wustl.edu 37 6 136508214 136508214 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 136508214 136508214 T C SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known silent c.1086 p.L362 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 29 0 0.00 25 4 13.79 PHKB 0 genome.wustl.edu 37 16 47614247 47614247 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 47614247 47614247 G C SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.752 p.G251A 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 80 0 0.00 51 4 7.27 PIEZO2 0 genome.wustl.edu 37 18 10682197 10682197 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 10682197 10682197 C G SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.1122 p.W374C 1.000 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 47 0 0.00 64 4 5.88 PIK3R3 0 genome.wustl.edu 37 1 46511680 46511680 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 46511680 46511680 A G SNP PIK3R3 ENST00000540385 human ensembl 74_37 -1 known missense c.1235 p.V412A 0.968 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 tier1 - - 22 0 0.00 24 10 29.41 PLA2G4D 0 genome.wustl.edu 37 15 42375440 42375440 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 42375440 42375440 G A SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known missense c.628 p.H210Y 1.000 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 tier1 - - 45 0 0.00 35 7 16.67 PLEKHA7 0 genome.wustl.edu 37 11 16813275 16813275 + RNA SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 16813275 16813275 T C SNP PLEKHA7 ENST00000332954 human ensembl 74_37 -1 known rna NULL NULL 0.094 - - - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 - - 41 0 0.00 24 6 19.35 PLXNA4 0 genome.wustl.edu 37 7 131853149 131853149 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 131853149 131853149 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.4200 p.Y1400 0.119 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 rs200917567 - 56 0 0.00 29 5 14.71 PLXNA4 0 genome.wustl.edu 37 7 131865470 131865470 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 131865470 131865470 C A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.3514 p.V1172L 0.985 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 55 0 0.00 27 3 10.00 POLR3F 0 genome.wustl.edu 37 20 18453556 18453556 + RNA SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 18453556 18453556 A G SNP POLR3F ENST00000475192 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors POLR3F HGNC ENSG00000132664 tier1 - - 91 0 0.00 86 17 16.50 POP4 0 genome.wustl.edu 37 19 30101337 30101337 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 30101337 30101337 G A SNP POP4 ENST00000585603 human ensembl 74_37 +1 known missense c.82 p.E28K 0.994 pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC ENSG00000105171 19 0 0.00 18 2 10.00 POU4F3 0 genome.wustl.edu 37 5 145719156 145719156 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 145719156 145719156 C T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.166 p.R56C 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 57 0 0.00 33 6 15.38 PPARG 0 genome.wustl.edu 37 3 12475550 12475550 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 12475550 12475550 C T SNP PPARG ENST00000287820 human ensembl 74_37 +1 known missense c.1424 p.T475M 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 tier1 - - 41 0 0.00 23 23 50.00 PPARGC1B 0 genome.wustl.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 149216400 149216402 CAG - DEL PPARGC1B ENST00000309241 human ensembl 74_37 +1 known in_frame_del c.2382_2384 p.S798in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 tier1 18 0 0.00 18 3 14.29 PPFIBP2 0 genome.wustl.edu 37 11 7670439 7670439 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 7670439 7670439 C T SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known silent c.1971 p.D657 0.999 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 78 0 0.00 72 4 5.26 PPP1R26 0 genome.wustl.edu 37 9 138379416 138379416 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 138379416 138379416 G T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.3060 p.Q1020H 0.236 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 33 0 0.00 18 4 18.18 PPP4R4 0 genome.wustl.edu 37 14 94712746 94712746 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 94712746 94712746 C G SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.1481 p.A494G 0.974 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 48 0 0.00 34 3 8.11 PROX1 0 genome.wustl.edu 37 1 214170813 214170813 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 214170813 214170813 G C SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.935 p.R312P 0.991 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 21 0 0.00 18 4 18.18 PSTPIP2 0 genome.wustl.edu 37 18 43572095 43572095 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 43572095 43572095 C T SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known missense c.815 p.R272H 0.967 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 tier1 - - 84 0 0.00 45 4 8.16 PTDSS1 0 genome.wustl.edu 37 8 97321829 97321829 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 97321829 97321829 G A SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known missense c.1052 p.G351E 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 tier1 - - 66 0 0.00 49 4 7.55 PTPN1 0 genome.wustl.edu 37 20 49195805 49195805 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 49195805 49195805 G T SNP PTPN1 ENST00000371621 human ensembl 74_37 +1 known missense c.803 p.R268L 1.000 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 tier1 - - 61 0 0.00 43 14 24.56 PTPRJ 0 genome.wustl.edu 37 11 48161120 48161120 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 48161120 48161120 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.2235 p.G745 0.001 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 52 0 0.00 42 8 16.00 PTPRZ1 0 genome.wustl.edu 37 7 121695040 121695040 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 121695040 121695040 A G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.6427 p.N2143D 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 38 0 0.00 30 7 18.92 RALGAPA1 0 genome.wustl.edu 37 14 36096451 36096451 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 36096451 36096451 T G SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.5325 p.Q1775H 0.997 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 - - 138 0 0.00 106 27 20.30 RAP1GDS1 0 genome.wustl.edu 37 4 99355168 99355168 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 99355168 99355168 A G SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known missense c.1525 p.N509D 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 tier1 - - 85 0 0.00 44 26 37.14 RBM33 0 genome.wustl.edu 37 7 155532574 155532576 + In_Frame_Del DEL CAC CAC - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 155532574 155532576 CAC - DEL RBM33 ENST00000401878 human ensembl 74_37 +1 known in_frame_del c.1903_1905 p.H638in_frame_del 0.994:0.987:0.985 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 tier1 31 0 0.00 15 3 16.67 RBM44 0 genome.wustl.edu 37 2 238726336 238726336 + Silent SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 238726336 238726336 A C SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known silent c.777 p.S259 0.002 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 tier1 - - 47 0 0.00 35 4 10.26 RELN 0 genome.wustl.edu 37 7 103243886 103243886 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 103243886 103243886 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.3198 p.P1066 0.949 superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 69 0 0.00 77 10 11.49 RELN 0 genome.wustl.edu 37 7 103175830 103175830 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 103175830 103175830 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7282 p.R2428W 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 47 0 0.00 70 4 5.41 REV3L 0 genome.wustl.edu 37 6 111656701 111656701 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 111656701 111656701 A C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.7651 p.F2551V 1.000 superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 28 0 0.00 28 5 15.15 RGS12 0 genome.wustl.edu 37 4 3318886 3318887 + In_Frame_Ins INS - - GGG TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 3318886 3318887 - GGG INS RGS12 ENST00000344733 human ensembl 74_37 +1 known in_frame_ins c.989_990 p.332in_frame_insG 0.251:0.143 smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 38 0 0.00 33 7 17.50 RIMS2 0 genome.wustl.edu 37 8 104973332 104973332 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 104973332 104973332 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2741 p.D914G 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 52 0 0.00 35 3 7.89 RPL6P27 0 genome.wustl.edu 37 18 6462681 6462681 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 6462681 6462681 C T SNP RPL6P27 ENST00000583065 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL6P27 HGNC ENSG00000235552 tier1 - - 74 0 0.00 60 6 9.09 RTL1 0 genome.wustl.edu 37 14 101348911 101348911 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 101348911 101348911 A C SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.2215 p.S739A 1.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 28 0 0.00 24 3 11.11 RUNDC3B 0 genome.wustl.edu 37 7 87370826 87370826 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 87370826 87370826 A C SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.611 p.K204T 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 140 0 0.00 131 25 16.03 SASH1 0 genome.wustl.edu 37 6 148711341 148711341 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 148711341 148711341 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.228 p.D76 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 tier1 - - 58 0 0.00 43 15 25.86 SAV1 0 genome.wustl.edu 37 14 51132289 51132289 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 51132289 51132289 G C SNP SAV1 ENST00000324679 human ensembl 74_37 -1 known missense c.143 p.T48S 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_SARAH_dom,pfscan_WW_dom - no_errors SAV1 HGNC ENSG00000151748 tier1 - - 52 0 0.00 62 9 12.68 SCAF4 0 genome.wustl.edu 37 21 33063176 33063176 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 21 33063176 33063176 C G SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1819 p.V607L 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 - - 74 0 0.00 51 4 7.27 SCN10A 0 genome.wustl.edu 37 3 38835375 38835376 + Frame_Shift_Del DEL CC CC - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 38835375 38835376 CC - DEL SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_del c.127_126 p.E43fs 0.041:0.001 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 63 0 0.00 61 8 11.59 SCN10A 0 genome.wustl.edu 37 3 38835377 38835377 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 38835377 38835377 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.125 p.R42K 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 62 0 0.00 59 8 11.76 SCN3A 0 genome.wustl.edu 37 2 165972030 165972030 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 165972030 165972030 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.3449 p.R1150Q 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 47 0 0.00 52 6 10.34 SCN4A 0 genome.wustl.edu 37 17 62020234 62020234 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 62020234 62020234 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.4240 p.V1414I 0.977 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 44 0 0.00 26 2 7.14 SCO2 0 genome.wustl.edu 37 22 50962128 50962128 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 50962128 50962128 G A SNP SCO2 ENST00000252785 human ensembl 74_37 -1 known missense c.713 p.T238M 0.692 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 tier1 rs149439760 - 80 0 0.00 77 5 6.10 SERPINA9 0 genome.wustl.edu 37 14 94936069 94936069 + Missense_Mutation SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 94936069 94936069 T C SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known missense c.163 p.K55E 0.001 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 34 0 0.00 36 3 7.69 SERTAD3 0 genome.wustl.edu 37 19 40947484 40947484 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 40947484 40947484 T C SNP SERTAD3 ENST00000322354 human ensembl 74_37 -1 known silent c.504 p.P168 0.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 tier1 - - 38 0 0.00 25 9 26.47 SH3GL1P1 0 genome.wustl.edu 37 17 30368344 30368344 + RNA SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 30368344 30368344 A G SNP SH3GL1P1 ENST00000579186 human ensembl 74_37 +1 known rna NULL NULL 0.733 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 tier1 - - 51 0 0.00 56 6 9.68 SHKBP1 0 genome.wustl.edu 37 19 41094536 41094536 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 41094536 41094536 C T SNP SHKBP1 ENST00000291842 human ensembl 74_37 +1 known missense c.1343 p.A448V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 53 0 0.00 28 3 9.68 SIGLEC1 0 genome.wustl.edu 37 20 3674201 3674201 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 3674201 3674201 A G SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.3401 p.I1134T 0.722 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 - - 144 0 0.00 113 7 5.74 SIGLEC12 0 genome.wustl.edu 37 19 52004580 52004580 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 52004580 52004580 C A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.408 p.Q136H 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 tier1 - - 96 0 0.00 75 5 6.25 SIGLEC12 0 genome.wustl.edu 37 19 52004579 52004579 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 52004579 52004579 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.409 p.L137F 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 96 0 0.00 75 5 6.25 SIPA1L3 0 genome.wustl.edu 37 19 38652939 38652939 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 38652939 38652939 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.3708 p.A1236 0.013 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 36 0 0.00 39 12 23.53 SLAMF8 0 genome.wustl.edu 37 1 159799784 159799784 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 159799784 159799784 G A SNP SLAMF8 ENST00000289707 human ensembl 74_37 +1 known missense c.169 p.E57K 0.990 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 tier1 - - 28 0 0.00 21 4 16.00 SLC17A6 0 genome.wustl.edu 37 11 22398160 22398160 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 22398160 22398160 T G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1355 p.V452G 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 92 0 0.00 87 14 13.86 SLC22A11 0 genome.wustl.edu 37 11 64331893 64331893 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 64331893 64331893 C T SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.935 p.T312I 0.424 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 tier1 - - 61 0 0.00 50 14 21.88 SLC22A20 0 genome.wustl.edu 37 11 64981529 64981529 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 64981529 64981529 C T SNP SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors SLC22A20 HGNC ENSG00000197847 tier1 - - 104 0 0.00 78 15 16.13 SLC22A4 0 genome.wustl.edu 37 5 131630432 131630432 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 131630432 131630432 C A SNP SLC22A4 ENST00000200652 human ensembl 74_37 +1 known missense c.123 p.F41L 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 tier1 - - 53 0 0.00 28 6 17.65 SLC26A1 0 genome.wustl.edu 37 4 983911 983911 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 983911 983911 C T SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known silent c.816 p.A272 0.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 tier1 rs139361937 - 27 0 0.00 18 7 28.00 SLC27A4 0 genome.wustl.edu 37 9 131107437 131107437 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 131107437 131107437 C T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known silent c.165 p.G55 0.176 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 tier1 - - 70 0 0.00 58 4 6.45 SLC43A2 0 genome.wustl.edu 37 17 1531134 1531134 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 1531134 1531134 C T SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.35 p.R12H 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 100 0 0.00 63 4 5.97 SLITRK5 0 genome.wustl.edu 37 13 88328573 88328573 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 13 88328573 88328573 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.930 p.P310 0.027 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 38 0 0.00 42 4 8.70 SMARCB1 0 genome.wustl.edu 37 22 24133947 24133947 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 24133947 24133947 G A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.98 p.G33E 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 tier1 - - 34 0 0.00 27 7 20.59 SMCR8 0 genome.wustl.edu 37 17 18221391 18221391 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 18221391 18221391 C T SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.2288 p.P763L 0.998 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 tier1 - - 40 0 0.00 25 6 19.35 SOGA2 0 genome.wustl.edu 37 18 8793058 8793058 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 8793058 8793058 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.1950 p.L650 0.060 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 22 0 0.00 23 2 8.00 SP6 0 genome.wustl.edu 37 17 45924821 45924821 + Silent SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 45924821 45924821 G T SNP SP6 ENST00000342234 human ensembl 74_37 -1 known silent c.975 p.R325 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 tier1 - - 55 0 0.00 38 4 9.52 SPATA20 0 genome.wustl.edu 37 17 48627597 48627597 + Missense_Mutation SNP A A T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 48627597 48627597 A T SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1022 p.Q341L 1.000 pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 58 0 0.00 28 2 6.67 SPIDR 0 genome.wustl.edu 37 8 48614549 48614549 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 48614549 48614549 A G SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.1949 p.Y650C 0.989 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 tier1 - - 58 0 0.00 43 11 20.37 SPTA1 0 genome.wustl.edu 37 1 158609665 158609665 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 158609665 158609665 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4870 p.S1624P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 53 0 0.00 49 16 24.62 SRD5A2 0 genome.wustl.edu 37 2 31754426 31754426 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 31754426 31754426 C T SNP SRD5A2 ENST00000233139 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SRD5A2 HGNC ENSG00000049319 tier1 - - 51 0 0.00 39 4 9.30 SREBF2 0 genome.wustl.edu 37 22 42289188 42289188 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 42289188 42289188 G A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.2276 p.R759H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 40 0 0.00 38 4 9.52 SRSF1 0 genome.wustl.edu 37 17 56082445 56082445 + RNA SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 56082445 56082445 C T SNP SRSF1 ENST00000581497 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SRSF1 HGNC ENSG00000136450 tier1 - - 31 0 0.00 29 4 12.12 SSH2 0 genome.wustl.edu 37 17 27959603 27959603 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 27959603 27959603 G T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.2528 p.P843Q 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 41 0 0.00 26 11 29.73 ST3GAL2 0 genome.wustl.edu 37 16 70417132 70417132 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 70417132 70417132 G A SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known silent c.720 p.Y240 0.972 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 22 0 0.00 15 4 21.05 STAU2 0 genome.wustl.edu 37 8 74515978 74515978 + Nonsense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 74515978 74515978 G A SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known nonsense c.1012 p.R338* 0.993 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 tier1 - - 75 0 0.00 57 10 14.93 STK3 0 genome.wustl.edu 37 8 99761534 99761534 + Silent SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 99761534 99761534 G T SNP STK3 ENST00000419617 human ensembl 74_37 -1 known silent c.321 p.V107 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 tier1 - - 136 0 0.00 111 9 7.50 STK39 0 genome.wustl.edu 37 2 169020387 169020387 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 169020387 169020387 G A SNP STK39 ENST00000355999 human ensembl 74_37 -1 known missense c.434 p.S145L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC ENSG00000198648 tier1 - - 54 0 0.00 40 8 16.67 STON1 0 genome.wustl.edu 37 2 48822435 48822435 + Silent SNP T T C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 48822435 48822435 T C SNP STON1 ENST00000309835 human ensembl 74_37 +1 known silent c.2202 p.T734 0.994 pirsf_Stonin pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1 HGNC ENSG00000243244 tier1 - - 87 0 0.00 53 10 15.87 STOX1 0 genome.wustl.edu 37 10 70644118 70644118 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 10 70644118 70644118 C T SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.566 p.P189L 1.000 pfam_Storkhead-box_winged-helix pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 tier1 - - 20 0 0.00 13 5 27.78 SYNE1 0 genome.wustl.edu 37 6 152679647 152679647 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 152679647 152679647 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10469 p.L3490P 0.999 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 107 0 0.00 83 15 15.31 SYNE3 0 genome.wustl.edu 37 14 95921763 95921763 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 95921763 95921763 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.1088 p.A363V 0.000 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 rs142727232 - 43 0 0.00 23 4 14.81 TAOK3 0 genome.wustl.edu 37 12 118682750 118682750 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 118682750 118682750 A C SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.141 p.S47R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 tier1 - - 30 0 0.00 10 4 28.57 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58086037 58086037 + RNA SNP T T A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 58086037 58086037 T A SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.145 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 tier1 - - 65 0 0.00 34 6 15.00 TBPL2 0 genome.wustl.edu 37 14 55890916 55890916 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 55890916 55890916 C T SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.1012 p.V338M 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 tier1 - - 42 0 0.00 29 5 14.71 TC2N 0 genome.wustl.edu 37 14 92258843 92258844 + Frame_Shift_Ins INS - - A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 92258843 92258844 - A INS TC2N ENST00000340892 human ensembl 74_37 -1 known frame_shift_ins c.915_914 p.R306fs 0.303:0.904 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors TC2N HGNC ENSG00000165929 tier1 106 0 0.00 89 6 6.32 TCF20 0 genome.wustl.edu 37 22 42607342 42607342 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 42607342 42607342 C T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.3970 p.D1324N 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 42 0 0.00 57 5 8.06 TFEC 0 genome.wustl.edu 37 7 115750911 115750911 + Nonsense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 115750911 115750911 C A SNP TFEC ENST00000484212 human ensembl 74_37 -1 novel nonsense c.49 p.G17* 0.986 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 tier1 - - 77 0 0.00 75 4 5.06 THAP9 0 genome.wustl.edu 37 4 83838912 83838912 + Missense_Mutation SNP A A T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 83838912 83838912 A T SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.1547 p.N516I 0.766 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 74 0 0.00 73 4 5.13 TM9SF4 0 genome.wustl.edu 37 20 30734620 30734620 + Silent SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 30734620 30734620 C A SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known silent c.916 p.R306 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 40 0 0.00 38 2 5.00 TMEM132D 0 genome.wustl.edu 37 12 130184584 130184584 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 130184584 130184584 T G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.739 p.S247R 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 31 0 0.00 17 3 15.00 TMEM141 0 genome.wustl.edu 37 9 139686714 139686714 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 9 139686714 139686714 G A SNP TMEM141 ENST00000290079 human ensembl 74_37 +1 known missense c.217 p.V73M 0.596 NULL NULL - no_errors TMEM141 HGNC ENSG00000244187 35 0 0.00 36 2 5.26 TMPO 0 genome.wustl.edu 37 12 98941483 98941483 + Missense_Mutation SNP G G T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 12 98941483 98941483 G T SNP TMPO ENST00000556029 human ensembl 74_37 +1 known missense c.1212 p.K404N 0.990 NULL pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 tier1 - - 57 0 0.00 47 6 11.32 TNK2 0 genome.wustl.edu 37 3 195593867 195593867 + Silent SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 195593867 195593867 C A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known silent c.3147 p.L1049 1.000 superfamily_UBA-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 112 0 0.00 75 4 5.06 TNRC6C 0 genome.wustl.edu 37 17 76063908 76063908 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 76063908 76063908 G C SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.2673 p.E891D 0.852 pfam_Argonaute_hook_dom pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 tier1 - - 23 0 0.00 24 6 20.00 TNXB 0 genome.wustl.edu 37 6 32064950 32064950 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 32064950 32064950 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.680 p.R227L 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 47 0 0.00 40 7 14.89 TOX3 0 genome.wustl.edu 37 16 52484404 52484404 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 52484404 52484404 G A SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.463 p.R155W 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 36 0 0.00 34 2 5.56 TPST2 0 genome.wustl.edu 37 22 26937283 26937283 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 26937283 26937283 C T SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known missense c.314 p.R105H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 tier1 - - 33 0 0.00 27 12 30.77 TPTE2P6 0 genome.wustl.edu 37 13 25168448 25168449 + RNA INS - - TA TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 13 25168448 25168449 0 TA INS TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TPTE2P6 HGNC ENSG00000205822 127 0 0.00 178 16 8.25 TRIM3 0 genome.wustl.edu 37 11 6478032 6478032 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 11 6478032 6478032 C T SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known silent c.924 p.S308 0.841 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 tier1 - - 73 0 0.00 62 13 17.11 TRIM31 0 genome.wustl.edu 37 6 30071921 30071921 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 30071921 30071921 G A SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known missense c.982 p.H328Y 0.001 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 tier1 - - 82 0 0.00 56 15 21.13 TRIM52 0 genome.wustl.edu 37 5 180687595 180687595 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 180687595 180687595 C T SNP TRIM52 ENST00000327767 human ensembl 74_37 -1 known missense c.220 p.A74T 0.832 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 tier1 - - 48 0 0.00 34 4 10.53 TRIM55 0 genome.wustl.edu 37 8 67062654 67062654 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 8 67062654 67062654 A C SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.938 p.N313T 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 tier1 - - 42 0 0.00 44 9 16.98 TRIM60 0 genome.wustl.edu 37 4 165961334 165961334 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 4 165961334 165961334 G A SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.110 p.R37H 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 tier1 - - 67 0 0.00 51 8 13.56 TRPV1 0 genome.wustl.edu 37 17 3489096 3489096 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 3489096 3489096 G A SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.1349 p.T450I 0.999 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 38 0 0.00 21 3 12.50 TTC21B 0 genome.wustl.edu 37 2 166747426 166747426 + Missense_Mutation SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 166747426 166747426 A C SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.3023 p.F1008C 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 50 0 0.00 41 10 19.61 TTC24 0 genome.wustl.edu 37 1 156551817 156551817 + Frame_Shift_Del DEL A A - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 156551817 156551817 A - DEL TTC24 ENST00000368236 human ensembl 74_37 +1 known frame_shift_del c.661 p.S222fs 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC24 HGNC ENSG00000187862 tier1 63 0 0.00 35 2 5.41 TTN 0 genome.wustl.edu 37 2 179544127 179544127 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 179544127 179544127 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29949 p.K9983N 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 101 0 0.00 111 18 13.95 TTN 0 genome.wustl.edu 37 2 179659787 179659787 + Missense_Mutation SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 179659787 179659787 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.1107 p.Q369H 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 65 0 0.00 62 14 18.42 TTN-AS1 0 genome.wustl.edu 37 2 179479099 179479100 + RNA INS - - A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 2 179479099 179479100 - A INS TTN-AS1 ENST00000456053 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 15 0 0.00 15 2 11.76 TXLNB 0 genome.wustl.edu 37 6 139564250 139564250 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 6 139564250 139564250 C T SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.1468 p.A490T 0.000 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 tier1 - - 80 0 0.00 69 9 11.54 ULK4 0 genome.wustl.edu 37 3 41705161 41705161 + Missense_Mutation SNP G G C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 3 41705161 41705161 G C SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.3008 p.P1003R 0.987 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 tier1 - - 54 0 0.00 44 5 10.20 UNC13C 0 genome.wustl.edu 37 15 54786896 54786896 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 54786896 54786896 T G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.5024 p.L1675R 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 77 0 0.00 67 9 11.84 URB1 0 genome.wustl.edu 37 21 33717703 33717703 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 21 33717703 33717703 G A SNP URB1 ENST00000382751 human ensembl 74_37 -1 known silent c.4050 p.H1350 0.023 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 tier1 - - 52 0 0.00 33 7 17.50 WDR3 0 genome.wustl.edu 37 1 118499808 118499808 + Missense_Mutation SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 118499808 118499808 C G SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known missense c.2571 p.F857L 1.000 pfam_SSU_processome_Utp12 pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 39 0 0.00 39 3 7.14 WDR87 0 genome.wustl.edu 37 19 38382211 38382211 + Missense_Mutation SNP T T G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 38382211 38382211 T G SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.3375 p.Q1125H 0.002 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 98 0 0.00 76 11 12.64 XKR7 0 genome.wustl.edu 37 20 30584921 30584921 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 20 30584921 30584921 C T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known silent c.1401 p.D467 0.971 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 tier1 - - 32 0 0.00 22 5 18.52 ZBTB4 0 genome.wustl.edu 37 17 7369066 7369066 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 17 7369066 7369066 C T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.1055 p.R352H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 - - 42 0 0.00 29 5 14.71 ZBTB48 0 genome.wustl.edu 37 1 6649261 6649262 + Frame_Shift_Del DEL TG TG - TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 6649261 6649262 TG - DEL ZBTB48 ENST00000377674 human ensembl 74_37 +1 known frame_shift_del c.2056_2057 p.C686fs 0.977:0.997 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 tier1 25 0 0.00 23 8 25.81 ZDHHC11B 0 genome.wustl.edu 37 5 716924 716924 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 5 716924 716924 C T SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known silent c.1115 p.*372 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 280 0 0.00 223 32 12.55 ZDHHC8 0 genome.wustl.edu 37 22 20131087 20131087 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 22 20131087 20131087 C T SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.1934 p.S645F 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 tier1 - - 73 0 0.00 46 7 13.21 ZFHX2 0 genome.wustl.edu 37 14 23993569 23993569 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 14 23993569 23993569 C T SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known missense c.5582 p.R1861H 0.997 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 39 0 0.00 28 3 9.68 ZFP28 0 genome.wustl.edu 37 19 57066743 57066743 + Silent SNP C C G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 57066743 57066743 C G SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known silent c.2589 p.S863 0.185 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 tier1 - - 45 0 0.00 31 4 11.43 ZMYM6 0 genome.wustl.edu 37 1 35496333 35496333 + RNA SNP C C A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 1 35496333 35496333 C A SNP ZMYM6 ENST00000493328 human ensembl 74_37 -1 known rna NULL NULL 0.069 - - - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 39 0 0.00 31 26 45.61 ZNF138 0 genome.wustl.edu 37 7 64293635 64293635 + RNA SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 7 64293635 64293635 A C SNP ZNF138 ENST00000430838 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF138 HGNC ENSG00000197008 tier1 - - 36 0 0.00 42 11 20.75 ZNF280D 0 genome.wustl.edu 37 15 56946582 56946582 + Splice_Site SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 15 56946582 56946582 C T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known splice_site c.2176+1 e16+1 1.000 - - - no_errors ZNF280D HGNC ENSG00000137871 tier1 - - 31 0 0.00 33 6 15.38 ZNF439 0 genome.wustl.edu 37 19 11978920 11978920 + Silent SNP A A C TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 11978920 11978920 A C SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known silent c.1036 p.R346 0.027 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ENSG00000171291 tier1 - - 80 0 0.00 51 11 17.74 ZNF44 0 genome.wustl.edu 37 19 12384613 12384613 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 12384613 12384613 G A SNP ZNF44 ENST00000393337 human ensembl 74_37 -1 known missense c.601 p.R201C 0.004 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 tier1 - - 115 0 0.00 113 11 8.87 ZNF521 0 genome.wustl.edu 37 18 22804397 22804397 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 18 22804397 22804397 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3485 p.R1162Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 rs146072050 - 36 0 0.00 30 15 33.33 ZNF536 0 genome.wustl.edu 37 19 31038964 31038964 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 31038964 31038964 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2438 p.S813F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 40 0 0.00 31 7 18.42 ZNF720 0 genome.wustl.edu 37 16 31766921 31766921 + Nonsense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 16 31766921 31766921 C T SNP ZNF720 ENST00000399681 human ensembl 74_37 +1 known nonsense c.1309 p.R437* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ENSG00000197302 39 0 0.00 35 3 7.89 ZNF814 0 genome.wustl.edu 37 19 58385788 58385788 + Missense_Mutation SNP A A G TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 58385788 58385788 A G SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.970 p.Y324H 0.063 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 tier1 - - 115 0 0.00 96 7 6.80 ZNF823 0 genome.wustl.edu 37 19 11833223 11833223 + Nonsense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bd8ca45f-20bb-436a-a6a2-352ecab2a6f9 dc525144-6ff0-4091-af35-bce44d680e37 19 11833223 11833223 G A SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known nonsense c.1126 p.R376* 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF823 HGNC ENSG00000197933 tier1 - - 111 0 0.00 77 19 19.39